Observations on the Natural History of Camurati‐Engelmann Disease

• Published in: Journal of bone and mineral research Vol. 34; no. 5; pp. 875 - 882
• Main Authors: Hughes, Peter, Hassan, Ibrahim, Que, Lorna, Mead, Patricia, Lee, Jessica Heejong, Love, Donald R, Prosser, Debra O, Cundy, Tim
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 01.05.2019
• Subjects: BMPS/TGF‐BETA; Bone dysplasia; Bones; CELL/TISSUE SIGNALING; Children; Cranial nerves; DISEASES AND DISORDERS OF/RELATED TO BONE; Etiology; Gait; GENETIC RESEARCH; Genetic variability; Growth factors; HUMAN ASSOCIATION STUDIES; Leg; Mechanical properties; Meningoencephalitis; Movement disorders; Mutation; Natural history; Osteosclerosis; OTHER; Pain; PARACRINE PATHWAYS; Paresis; Phenotypes; Phenotypic variations; Point mutation; Radiography; Scintigraphy; Skull; Transforming growth factor-b1; CELL/TISSUE SIGNALING; OTHER; DISEASES AND DISORDERS OF/RELATED TO BONE; BMPS/TGF-BETA; HUMAN ASSOCIATION STUDIES; PARACRINE PATHWAYS; GENETIC RESEARCH

ABSTRACT Camurati‐Engelmann disease (OMIM 31300) is a rare cranio‐tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly‐inherited mutations in the transforming growth factor beta 1 (TGFB1) gene. A wide variation in phenotype has been recognized, even...